Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Glb1l3'

441071

Institutional Source

Beutler Lab

Gene Symbol

Glb1l3

Ensembl Gene

ENSMUSG00000031966

Gene Name

galactosidase, beta 1 like 3

Synonyms

4921509F24Rik

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26729249-26772186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26736122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 553 (L553I)

Ref Sequence

ENSEMBL: ENSMUSP00000147979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034448
AA Change: L478I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: L478I

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_35	1	304	1.5e-110	PFAM
Pfam:Glyco_hydro_42	7	160	6.2e-11	PFAM
low complexity region	309	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209592

Predicted Effect

probably benign
Transcript: ENSMUST00000210274
AA Change: L553I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211353

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,403 (GRCm39)	I169V	probably damaging	Het
4930503B20Rik	C	T	3: 146,356,264 (GRCm39)	E215K	probably damaging	Het
Abca6	T	C	11: 110,141,234 (GRCm39)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,506 (GRCm39)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,877,321 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,527 (GRCm39)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,361,670 (GRCm39)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,736,453 (GRCm39)	T103A	probably benign	Het
Akap9	A	G	5: 4,100,590 (GRCm39)	T2751A	probably benign	Het
Amer3	A	T	1: 34,627,462 (GRCm39)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,818,232 (GRCm39)	Y325C	probably benign	Het
Apba2	A	G	7: 64,345,554 (GRCm39)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,315,983 (GRCm39)	V967E	probably damaging	Het
Atosa	T	A	9: 74,932,961 (GRCm39)	V976E	probably damaging	Het
Boc	A	G	16: 44,320,024 (GRCm39)	V320A	probably damaging	Het
Car13	T	A	3: 14,710,180 (GRCm39)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cep295	C	A	9: 15,246,404 (GRCm39)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,244,090 (GRCm39)	H1455Q	probably damaging	Het
Cr2	G	T	1: 194,836,581 (GRCm39)	H861N	probably damaging	Het
Cul5	T	C	9: 53,534,243 (GRCm39)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,982,596 (GRCm39)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,833,443 (GRCm39)	T500M	probably damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Fam161a	T	A	11: 22,965,725 (GRCm39)	I6N	probably damaging	Het
Fry	T	C	5: 150,304,332 (GRCm39)	V574A	probably damaging	Het
Gm1123	T	C	9: 98,896,244 (GRCm39)	D212G	probably benign	Het
Grin2a	T	A	16: 9,810,090 (GRCm39)	D103V	probably damaging	Het
Heg1	A	G	16: 33,527,333 (GRCm39)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,310,824 (GRCm39)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 61,349,834 (GRCm39)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,201,115 (GRCm39)	D452G	possibly damaging	Het
Iqcc	A	T	4: 129,510,320 (GRCm39)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,025,006 (GRCm39)	I669T	probably damaging	Het
Itgae	A	G	11: 73,020,074 (GRCm39)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,840,503 (GRCm39)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm39)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,541,348 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,742,278 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,109,943 (GRCm39)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,148,273 (GRCm39)	T682A	probably damaging	Het
Mab21l4	T	C	1: 93,080,668 (GRCm39)	T413A	probably damaging	Het
Mslnl	G	T	17: 25,956,816 (GRCm39)	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,426,044 (GRCm39)	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,426,051 (GRCm39)		probably null	Het
Nkx2-2	T	C	2: 147,026,319 (GRCm39)	T140A	probably damaging	Het
Or11h6	T	C	14: 50,880,524 (GRCm39)	V262A	probably benign	Het
Or4c125	A	T	2: 89,170,049 (GRCm39)	V199E	possibly damaging	Het
Oser1	C	T	2: 163,248,965 (GRCm39)	R79H	probably damaging	Het
Pfas	A	G	11: 68,881,958 (GRCm39)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,388 (GRCm39)	E1970G	probably benign	Het
Prph2	G	T	17: 47,221,593 (GRCm39)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm39)	A1288S	probably benign	Het
Scart2	G	A	7: 139,828,853 (GRCm39)	V171I	possibly damaging	Het
Sdha	A	G	13: 74,471,958 (GRCm39)		probably null	Het
Sec16a	T	G	2: 26,329,907 (GRCm39)	T703P	probably benign	Het
Senp7	T	A	16: 55,993,571 (GRCm39)	N724K	possibly damaging	Het
Skint1	A	G	4: 111,882,699 (GRCm39)	I248V	probably benign	Het
Slc9a5	T	C	8: 106,083,645 (GRCm39)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,780,385 (GRCm39)	N135S	possibly damaging	Het
Sncaip	A	G	18: 53,028,028 (GRCm39)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,225,781 (GRCm39)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,242,663 (GRCm39)	H281Q	probably benign	Het
Tex46	G	T	4: 136,340,228 (GRCm39)	M104I	probably benign	Het
Tjp3	T	C	10: 81,114,454 (GRCm39)		probably null	Het
Treh	A	G	9: 44,593,975 (GRCm39)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,337,611 (GRCm39)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,830,968 (GRCm39)	K1278E	probably damaging	Het
Tut4	G	A	4: 108,414,570 (GRCm39)	R49H	probably damaging	Het
Usp34	T	C	11: 23,325,024 (GRCm39)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Ywhae	T	C	11: 75,647,750 (GRCm39)	M160T	probably benign	Het

Other mutations in Glb1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Glb1l3	APN	9	26,764,967 (GRCm39)	missense	probably damaging	1.00
IGL00537:Glb1l3	APN	9	26,740,346 (GRCm39)	missense	probably damaging	1.00
IGL01139:Glb1l3	APN	9	26,729,523 (GRCm39)	missense	probably benign	0.00
IGL01397:Glb1l3	APN	9	26,736,491 (GRCm39)	missense	probably benign
IGL01603:Glb1l3	APN	9	26,770,832 (GRCm39)	missense	probably damaging	1.00
IGL01938:Glb1l3	APN	9	26,729,825 (GRCm39)	missense	probably damaging	0.98
IGL02051:Glb1l3	APN	9	26,736,464 (GRCm39)	missense	probably benign	0.39
IGL02105:Glb1l3	APN	9	26,729,823 (GRCm39)	missense	probably damaging	0.99
IGL02132:Glb1l3	APN	9	26,736,466 (GRCm39)	missense	probably benign	0.07
IGL02249:Glb1l3	APN	9	26,742,564 (GRCm39)	missense	possibly damaging	0.60
IGL02363:Glb1l3	APN	9	26,764,940 (GRCm39)	missense	probably damaging	1.00
IGL02824:Glb1l3	APN	9	26,761,405 (GRCm39)	missense	probably damaging	1.00
IGL02938:Glb1l3	APN	9	26,738,055 (GRCm39)	missense	probably benign	0.26
IGL03181:Glb1l3	APN	9	26,739,659 (GRCm39)	splice site	probably null
IGL03288:Glb1l3	APN	9	26,729,601 (GRCm39)	missense	probably damaging	0.99
IGL03299:Glb1l3	APN	9	26,770,748 (GRCm39)	missense	probably damaging	1.00
R0479:Glb1l3	UTSW	9	26,740,389 (GRCm39)	missense	probably benign	0.31
R4036:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4037:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4038:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4039:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4797:Glb1l3	UTSW	9	26,739,742 (GRCm39)	missense	probably damaging	0.96
R4840:Glb1l3	UTSW	9	26,740,349 (GRCm39)	missense	probably benign	0.06
R5907:Glb1l3	UTSW	9	26,737,679 (GRCm39)	missense	probably damaging	1.00
R5916:Glb1l3	UTSW	9	26,766,032 (GRCm39)	missense	probably benign	0.20
R6428:Glb1l3	UTSW	9	26,770,748 (GRCm39)	missense	probably damaging	1.00
R6489:Glb1l3	UTSW	9	26,738,127 (GRCm39)	missense	probably benign	0.31
R6532:Glb1l3	UTSW	9	26,729,738 (GRCm39)	missense	probably benign	0.02
R6560:Glb1l3	UTSW	9	26,739,720 (GRCm39)	splice site	probably null
R6653:Glb1l3	UTSW	9	26,770,884 (GRCm39)	missense	probably benign	0.09
R6802:Glb1l3	UTSW	9	26,770,648 (GRCm39)	splice site	probably null
R7347:Glb1l3	UTSW	9	26,740,299 (GRCm39)	missense	probably benign
R7531:Glb1l3	UTSW	9	26,764,950 (GRCm39)	missense	possibly damaging	0.62
R7542:Glb1l3	UTSW	9	26,729,491 (GRCm39)	missense	possibly damaging	0.70
R7725:Glb1l3	UTSW	9	26,739,659 (GRCm39)	splice site	probably null
R8998:Glb1l3	UTSW	9	26,764,914 (GRCm39)	critical splice donor site	probably null
R8999:Glb1l3	UTSW	9	26,764,914 (GRCm39)	critical splice donor site	probably null
R9158:Glb1l3	UTSW	9	26,765,005 (GRCm39)	nonsense	probably null
R9464:Glb1l3	UTSW	9	26,761,351 (GRCm39)	missense	probably damaging	1.00
R9536:Glb1l3	UTSW	9	26,770,929 (GRCm39)	missense	probably benign	0.01
Z1177:Glb1l3	UTSW	9	26,729,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTCCCACTGGATTATGATAG -3'
(R):5'- GCACTAGAACAGAATAGGTATCCTG -3'

Sequencing Primer
(F):5'- GCTCTGATGGATCCACAGACATTG -3'
(R):5'- CCTGATTGTCAAGATAATACTGCCAG -3'

Posted On

2016-11-08